List of works - Silvia Genovese - Paulina

List of works by Silvia Genovese

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

scientific article published on 30 May 2019

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome

scientific article published on 05 October 2018

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile

scientific article published on 24 October 2020

KBG syndrome: Common and uncommon clinical features based on 31 new patients

scientific article published on 03 March 2020

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review

scientific article published on 27 September 2020

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